Results 141 to 150 of about 89,130 (269)

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Identification of Potential Biomarkers in Prostate Cancer Microarray Gene Expression Leveraging Explainable Machine Learning Classifiers. [PDF]

Cancers (Basel)
Marouf AA, Rokne JG, Alhajj R.
europepmc   +1 more source

Analysis of chicken paraxial mesoderm progenitor transcriptome using microarray technique

Developmental Biology, 2008
Bénazéraf, Bertrand, Mathur, Sachin, Zueckert-Gaudenz, Karin, Hattem, Gaye, Sachintha, Jayasinghe, Olivier, Tassy, Jeff, Haug, Olivier, Pourquié   +7 more
openaire   +1 more source

Appraisal of Gene Expression‐Based Classifiers for Neuropsychiatric Disorders: A Meta‐Regression

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A substantial body of research examines the potential of gene‐expression‐based biomarkers for diagnosing and selecting treatments for neuropsychiatric disorders, yet no clear consensus has been reached regarding the influence of controllable factors such as study design and model selection on the performance of gene‐expression‐based ...
Ali Razavi, Brittany Arensman, Eric J. Barnett, Leo A. Lee, Stephen V. Faraone, Stephen J. Glatt, Jonathan L. Hess   +6 more
wiley   +1 more source

Array of Testing Characterizes Prenatal Diagnosis of Mosaic Tetrasomy 9p24q22.3 Associated With an Unusually Mild Phenotype and Favourable Outcome. [PDF]

Mol Genet Genomic Med
Lee C, Casey E, Amor DJ.
europepmc   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Detection of Microbial Contaminants in Water: Conventional Methods, Pragmatic Alternatives, and Nanosensing Techniques. [PDF]

Microbiologyopen
Adeeyo AO, Edokpayi JN, Alabi MA, Oyetade JA, Ubomba-Jaswa E, Jaca P, Makungo R.   +6 more
europepmc   +1 more source

Characterization of inflammatory pseudotumors in a large animal model of liver cancer

Animal Models and Experimental Medicine, EarlyView.
CT images in arterial and portal venous phases of liver lesions in Oncopig. Abstract Background The development of relevant and robust large animal models of hepatocellular carcinoma is needed to test new therapeutic strategies for this disease. Transgenic approaches hold promise in addressing this complex problem. One such model, the Oncopig, has been
Erik N. K. Cressman, Samantha Hicks, Natalie W. Fowlkes, Danielle L. Stolley, Maria Sophia Stenkamp   +4 more
wiley   +1 more source

Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study. [PDF]

J Transl Med
Yin K, Lü Y, Zhang H, Li M, Chang J, Yang X, Qi Q, Zhou X, Guo J, Wang Y, Wang C, Li W, Hao N, Jiang Y.   +13 more
europepmc   +1 more source

Implantable Drug Delivery Systems for Skeletal Muscles and Eyes

Advanced NanoBiomed Research, EarlyView.
This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov, Murugan Ramalingam, Hongkai Wu, Toshinori Fujie, Yukinari Nakamura, Takeshi Hori, Yuji Nashimoto, Xuetao Shi, Hirokazu Kaji   +8 more
wiley   +1 more source